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National Center of Human Genomics Research

Director : Jean-François Deleuze
Courriel :  isabelle.laudier cea.fr

The CNRGH is the French national research center which enables a response to scientific questions necessitating high throughput sequencing and genotyping thanks to the development and deployment of innovative integrated technologies. The organization of the CNRGH enables optimization of genetic and genomic research on human diseases by creating indispensable links between cohort constitution (DNA samples), identification of the responsible genes, and study of the transcriptome and epigenome.​​​​

Published on 8 October 2019

                


The MEDical GENomics excellence laboratory, GENMED, has the objective of promoting the development of research projects on human diseases which are competitive at national and international level. 






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PUBLICATIONS

  
A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome
Investigation of candidate gene copy number identifies FCGR3B as a potential biomarker for rheumatoid arthritis
Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease
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